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First published 2010-6

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

Rizwana Kousar, Hira Nawaz, Maryam Khurshid [...]

Journal of Child Neurology

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Research article

First published 2010-8

Recession or Mutation? Post-Recovery Appeal of Major Consumer Brands

Daniel Tixier

Australasian Marketing Journal

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Research article

First published 2015-06

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema

Svetlana Melikhan-Revzin, Alina Kurolap, Efrat Dagan [...]

Lymphatic Research and Biology

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Brief report

First published 2001-09

Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Jocelyne Mercier, Claude Prévost, James C. Engert [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2013-05

Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients

Daniel No, Yadira Valles-Ayoub, Rosangela Carbajo [...]

Genetic Testing and Molecular Biomarkers

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Other

First published 2009-10

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

Kym M. Boycott, Carsten Bonnemann, Joachim Herz [...]

Journal of Child Neurology

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Case report

First published 2019-4

Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene

Manal Nicolas-Jilwan

The Neuroradiology Journal

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Case report

First published 2022-9

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient

Marina Soto-Sierra, María José Morillo-Sánchez, Marta Martín-Sánchez [...]

European Journal of Ophthalmology

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Research article

First published 2018-02

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa

Shujin Li, Mu Yang, Wenjing Liu [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-7

Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa

Mohamed Ksantini, Estèle Lafont, Béatrice Bocquet [...]

European Journal of Ophthalmology

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